# GREAT version 4.0.4 Species assembly: hg38 Association rule: Basal+extension: 5000 bp upstream, 1000 bp downstream, 1000000 bp max extension, curated regulatory domains included # Ontology Term Name Binom Rank Binom Raw P-Value Binom FDR Q-Val Binom Fold Enrichment Binom Observed Region Hits Binom Region Set Coverage Hyper Rank Hyper FDR Q-Val Hyper Fold Enrichment Hyper Observed Gene Hits Hyper Total Genes Hyper Gene Set Coverage GO Biological Process regulation of gene expression, epigenetic 41 2.385459e-73 7.656159751463416e-71 2.017438 812 0.03090037 628 0.0033476097877388534 1.175458 182 248 0.01552504 GO Biological Process mRNA catabolic process 67 1.137038e-58 2.2331765734328363e-56 2.024344 642 0.02443108 126 1.4374505184920635e-13 1.391168 185 213 0.01578094 GO Biological Process nuclear-transcribed mRNA catabolic process 76 8.506679e-57 1.472886696855263e-54 2.0643 592 0.02252835 151 4.563383466291391e-12 1.383306 171 198 0.01458671 GO Biological Process regulation of DNA-templated transcription in response to stress 80 2.15115e-54 3.53837285625e-52 2.255711 463 0.0176193 328 0.000002306960857652439 1.359446 101 119 0.008615542 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 87 4.796211e-51 7.254406959655172e-49 2.298085 417 0.01586879 356 0.000013608183943539326 1.346581 95 113 0.008103728 GO Biological Process mitochondrial membrane organization 91 4.880619e-49 7.057589606703297e-47 2.07827 501 0.01906538 274 1.5325888687956205e-7 1.382132 107 124 0.009127356 GO Biological Process cellular response to topologically incorrect protein 114 2.220937e-42 2.5636236827192984e-40 2.058439 441 0.0167821 227 4.836989857533039e-9 1.394306 121 139 0.01032159 GO Biological Process endoplasmic reticulum unfolded protein response 122 4.547905e-41 4.905400155327869e-39 2.175354 375 0.01427049 287 2.698387291010453e-7 1.39097 99 114 0.008444937 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 143 1.450447e-38 1.3347155295804195e-36 2.259926 323 0.01229165 252 1.8458980457539683e-8 1.411688 104 118 0.008871449 GO Biological Process cellular response to unfolded protein 154 4.216174e-36 3.6026385497402603e-34 2.020047 391 0.01487937 269 1.090340553717472e-7 1.389925 105 121 0.008956752 GO Biological Process cotranslational protein targeting to membrane 158 1.942383e-35 1.6177099934810128e-33 2.331222 277 0.01054114 306 8.428963047385622e-7 1.405594 86 98 0.007336006 GO Biological Process regulation of membrane permeability 174 9.679567e-34 7.320311617988506e-32 2.074797 341 0.01297663 359 0.00001411565563454039 1.40398 71 81 0.00605647 GO Biological Process regulation of mitochondrial membrane permeability 184 3.39355e-32 2.426941546195652e-30 2.124021 307 0.01168278 330 0.000002473075743242424 1.448133 66 73 0.005629958 GO Biological Process viral gene expression 189 4.72934e-31 3.2927716962962956e-29 2.046739 323 0.01229165 225 3.937860577066666e-9 1.412543 112 127 0.009553868 GO Biological Process mitochondrial transmembrane transport 206 3.40319e-29 2.173911515048544e-27 2.168195 264 0.01004643 855 0.022155892948538012 1.254361 65 83 0.005544656 GO Biological Process protein targeting to ER 213 3.838642e-28 2.371487797089202e-26 2.124804 266 0.01012254 220 3.026543682e-9 1.458995 92 101 0.007847821 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 214 4.169623e-28 2.5639284606074767e-26 2.201591 245 0.009323388 261 7.668460188505747e-8 1.445033 83 92 0.007080099 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to hypoxia 219 9.544676e-28 5.73508636913242e-26 2.114591 265 0.01008448 813 0.014844370082533824 1.273165 62 78 0.005288749 GO Biological Process IRE1-mediated unfolded protein response 224 6.702729e-27 3.9375540585267855e-25 2.459531 186 0.007078164 761 0.011089568280683311 1.325564 48 58 0.004094515 GO Biological Process platelet formation 242 1.333245e-25 7.249657419421488e-24 3.090325 120 0.004566558 870 0.024285161379310347 1.517422 18 19 0.001535443 GO Cellular Component ribosomal subunit 33 9.828001e-46 5.146298705454546e-44 2.064085 474 0.0180379 47 1.544559564255319e-9 1.350642 156 185 0.01330717 GO Cellular Component methyltransferase complex 58 1.675608e-31 4.992156248275863e-30 2.078113 316 0.01202527 82 0.000017089294126829268 1.372906 78 91 0.006653587 GO Cellular Component histone methyltransferase complex 68 1.234994e-29 3.1383376941176473e-28 2.137954 277 0.01054114 127 0.0009851153839370078 1.346376 58 69 0.004947539 GO Cellular Component large ribosomal subunit 71 3.225231e-29 7.849576292957746e-28 2.086484 289 0.01099779 62 4.542332283870968e-7 1.378875 99 115 0.008444937 GO Cellular Component mitochondrial ribosome 91 1.655931e-23 3.1444491956043958e-22 2.271633 189 0.007192328 134 0.0018660929910447762 1.300222 69 85 0.005885865 GO Cellular Component intrinsic component of mitochondrial membrane 95 3.600075e-22 6.5483469473684216e-21 2.09471 213 0.00810564 149 0.008017496697986577 1.30602 53 65 0.004521027 GO Cellular Component integral component of mitochondrial membrane 102 6.820312e-21 1.1554410917647059e-19 2.059801 208 0.007915366 155 0.010171932201290323 1.3014 52 64 0.004435725 GO Cellular Component cytosolic large ribosomal subunit 104 1.980666e-20 3.2909527384615386e-19 2.13175 187 0.007116219 69 0.0000043708758260869565 1.470434 56 61 0.004776934 GO Cellular Component small ribosomal subunit 113 1.872137e-18 2.862878527433628e-17 2.026867 189 0.007192328 151 0.008149492895364239 1.290277 58 72 0.004947539 GO Cellular Component BLOC-1 complex 120 2.631063e-17 3.78873072e-16 3.244845 73 0.002777989 179 0.023636587977653632 1.512738 17 18 0.001450141 GO Cellular Component BLOC complex 133 1.411144e-14 1.8334261894736843e-13 2.612878 85 0.003234645 174 0.02072541351724138 1.462443 21 23 0.00179135 GO Cellular Component MLL1 complex 151 4.166553e-13 4.768081843708609e-12 2.365298 91 0.003462973 160 0.012032355599999999 1.436028 26 29 0.002217862 GO Cellular Component Cul4-RING E3 ubiquitin ligase complex 155 1.079125e-12 1.2030503225806451e-11 2.17442 105 0.003995738 169 0.017278220875739644 1.401508 28 32 0.002388467 GO Cellular Component methylosome 368 0.000142032 0.0006669328695652173 2.324336 25 0.0009513662 187 0.032339538481283424 1.601723 12 12 0.001023629 GO Molecular Function unfolded protein binding 13 3.15967e-41 1.0261635953846155e-38 2.400088 306 0.01164472 76 0.00047982280039473685 1.314622 87 106 0.007421309 GO Molecular Function rRNA binding 22 3.260397e-26 6.256998242727272e-24 2.784162 145 0.005517924 107 0.004321390614953271 1.361465 51 60 0.004350422 GO Molecular Function polyubiquitin binding 62 1.978289e-14 1.3471509932258065e-12 2.025085 144 0.005479869 123 0.010653753609756098 1.38816 39 45 0.003326793 GO Molecular Function snRNA binding 69 1.459826e-13 8.932442568115942e-12 2.425602 90 0.003424918 116 0.007132483015517241 1.433121 34 38 0.002900281 GO Molecular Function K63-linked polyubiquitin binding 136 1.600529e-10 4.968701057352941e-9 2.167784 85 0.003234645 140 0.02067800496 1.525451 20 21 0.001706048 Human Phenotype Abnormality of transition element cation homeostasis 4 4.495651e-35 7.49986978075e-32 4.067451 117 0.004452394 233 0.031907450690987126 1.436028 26 29 0.002217862 Human Phenotype Progressive macrocephaly 40 1.967849e-14 3.2828640942499997e-12 2.687412 80 0.003044372 160 0.007865752873125001 1.534985 23 24 0.001961955 Human Phenotype Abnormal mitochondria in muscle tissue 80 2.844953e-11 2.373046421125e-9 2.456042 71 0.00270188 283 0.04920887131448763 1.462443 21 23 0.00179135 Human Phenotype Acute necrotizing encephalopathy 81 2.886081e-11 2.377631915185185e-9 2.511757 68 0.002587716 231 0.030342910961038957 1.521637 19 20 0.001620746 Mouse Phenotype Single KO abnormal erythropoiesis 22 7.804617e-81 3.2484944485909093e-78 2.226049 713 0.02713296 123 0.000021107205122764226 1.354184 93 110 0.007933123 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 36 3.246128e-68 8.256887248888889e-66 3.365313 296 0.01126418 493 0.04348172660243407 1.372906 30 35 0.002559072 Mouse Phenotype Single KO decreased erythroid progenitor cell number 41 1.393565e-61 3.1124084646341462e-59 2.475986 436 0.01659183 292 0.004978297128767123 1.381879 44 51 0.003753305 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 48 7.92733e-57 1.5123033502083335e-54 2.398406 427 0.01624933 163 0.00021260834955828223 1.450617 48 53 0.004094515 Mouse Phenotype Single KO abnormal circulating tumor necrosis factor level 91 3.175074e-35 3.1949618261538456e-33 2.057712 364 0.01385189 397 0.02113408382720403 1.235615 81 105 0.006909494 Mouse Phenotype Single KO increased circulating interferon-gamma level 97 2.985266e-33 2.8181526558762884e-31 2.790399 186 0.007078164 286 0.004791659591608392 1.415476 38 43 0.003241491 Mouse Phenotype Single KO increased interleukin-1 beta secretion 99 5.002726e-33 4.627268887070708e-31 2.75198 189 0.007192328 422 0.025817185042654026 1.407575 29 33 0.00247377 Mouse Phenotype Single KO abnormal circulating interferon level 102 3.577007e-32 3.21124049990196e-30 2.173374 291 0.0110739 432 0.028566554502314816 1.245785 70 90 0.005971168 Mouse Phenotype Single KO abnormal reticulocyte cell number 104 1.053447e-31 9.275398249038461e-30 2.034767 335 0.01274831 442 0.031398835070135744 1.264518 60 76 0.005118144 Mouse Phenotype Single KO increased body temperature 187 1.367859e-21 6.698120247593584e-20 2.306053 167 0.006355126 422 0.025817185042654026 1.407575 29 33 0.00247377 Mouse Phenotype Single KO microcytosis 205 2.159846e-20 9.647663327804878e-19 3.022796 97 0.003691301 371 0.016923794626415096 1.525451 20 21 0.001706048 Mouse Phenotype Single KO decreased inguinal fat pad weight 208 2.748307e-20 1.2099157307211537e-18 2.350769 150 0.005708197 492 0.04329636190853658 1.423754 24 27 0.002047258 Mouse Phenotype Single KO abnormal spleen iron level 216 9.643305e-20 4.088136290972222e-18 2.50074 129 0.004909049 411 0.02482208710218978 1.436028 26 29 0.002217862 Mouse Phenotype Single KO absent hypoglossal nerve 226 4.05777e-19 1.644115039380531e-17 3.347465 78 0.002968262 387 0.02012650392713178 1.601723 15 15 0.001279536 Mouse Phenotype Single KO macrocytosis 483 7.248495e-11 1.374212602795031e-9 2.109851 94 0.003577137 347 0.014007267621037463 1.601723 16 16 0.001364838 Mouse Phenotype abnormal erythropoiesis 24 2.798612e-92 1.1148970555e-89 2.167194 864 0.03287921 126 5.316270364047619e-7 1.343727 125 149 0.0106628 Mouse Phenotype abnormal embryonic erythrocyte morphology 47 1.178031e-69 2.3964158278723405e-67 3.1894 326 0.01240581 503 0.011548281411530815 1.396374 34 39 0.002900281 Mouse Phenotype decreased erythroid progenitor cell number 48 5.515748e-69 1.0986680547499999e-66 2.333505 550 0.02093006 507 0.011802362411834319 1.285594 61 76 0.005203446 Mouse Phenotype abnormal embryonic hematopoiesis 65 6.301003e-54 9.268290720461538e-52 2.253232 460 0.01750514 205 0.00004759806264878049 1.444177 55 61 0.004691632 Mouse Phenotype increased circulating interferon-gamma level 77 1.837762e-46 2.281927595064935e-44 3.035748 231 0.008790623 459 0.008473033188235293 1.355304 44 52 0.003753305 Mouse Phenotype abnormal reticulocyte cell number 84 2.291345e-44 2.6080416124999998e-42 2.027536 480 0.01826623 351 0.0018675743729914531 1.27844 87 109 0.007421309 Mouse Phenotype reticulocytosis 104 9.087941e-39 8.354788836634615e-37 2.035989 413 0.01571657 593 0.020116215015177068 1.238446 75 97 0.00639768 Mouse Phenotype increased circulating tumor necrosis factor level 109 5.632646e-38 4.9407090280733944e-36 2.139405 359 0.01366162 555 0.017107859067567566 1.242153 76 98 0.006482982 Mouse Phenotype decreased mean corpuscular hemoglobin 126 1.17714e-34 8.932250428571428e-33 2.052658 360 0.01369967 587 0.0192318782044293 1.268898 61 77 0.005203446 Mouse Phenotype microcytic anemia 149 1.923396e-31 1.2342006144966444e-29 2.990204 157 0.005974579 406 0.004506294758866995 1.491259 27 29 0.002303165 Mouse Phenotype microcytosis 163 2.900239e-29 1.7011769987116562e-27 3.397348 121 0.004604612 405 0.004452331068888889 1.534985 23 24 0.001961955 Mouse Phenotype increased liver iron level 174 4.834448e-28 2.6564458234482764e-26 2.68232 166 0.006317071 681 0.032866744779735675 1.372906 30 35 0.002559072 Mouse Phenotype abnormal spleen iron level 234 5.010227e-22 2.0471273652564102e-20 2.468165 149 0.005670142 449 0.007671835834743875 1.451562 29 32 0.00247377 Mouse Phenotype abnormal circulating interleukin-1 level 239 8.311603e-22 3.3249889658158993e-20 2.067205 216 0.008219804 722 0.03988277129085872 1.271209 50 63 0.00426512 Mouse Phenotype ruffled hair 242 1.281547e-21 5.063169779752066e-20 2.363462 159 0.006050689 681 0.032866744779735675 1.372906 30 35 0.002559072 Mouse Phenotype increased body temperature 282 2.143207e-19 7.266383732978724e-18 2.109908 181 0.006887891 501 0.011139584076646707 1.418669 31 35 0.002644374 Mouse Phenotype absent hypoglossal nerve 286 4.05777e-19 1.3565153486013987e-17 3.347465 78 0.002968262 538 0.015116356850185874 1.601723 15 15 0.001279536 Mouse Phenotype small intestinal inflammation 292 5.730708e-19 1.8764143557534248e-17 2.017836 197 0.007496765 653 0.030183227784073504 1.340977 36 43 0.003070886 Mouse Phenotype abnormal circulating interleukin-1 beta level 311 6.266081e-18 1.926366573665595e-16 2.009994 187 0.007116219 581 0.018862865633390707 1.315701 46 56 0.00392391 Mouse Phenotype decreased inguinal fat pad weight 324 2.681958e-17 7.914259394444444e-16 2.000164 182 0.006925946 424 0.005544200659669812 1.456112 30 33 0.002559072